Prediction Model for Audiological Outcomes in Patients With GJB2 Mutations

Area of Science:

• Genetics
• Audiology
• Otolaryngology

Background:

• Recessive GJB2 mutations are the leading genetic cause of sensorineural hearing impairment (SNHI).
• SNHI associated with GJB2 mutations exhibits significant variability in audiological features.
• A reliable predictive model for hearing outcomes in GJB2-related SNHI has been lacking.

Purpose of the Study:

• To identify key factors influencing hearing outcomes in patients with GJB2 mutations.
• To develop a predictive model for SNHI in individuals with GJB2 mutations.

Main Methods:

• Analysis of audiological data from 434 patients with biallelic GJB2 mutations, categorized by genotype.
• Comparison of hearing levels and audiogram configurations across different genotype groups.
• Application of univariate and multivariate generalized estimating equation (GEE) analyses to longitudinal audiological records.

Main Results:

• Significant differences in hearing levels and audiogram configurations were observed among the three genotype groups.
• Multivariate GEE analysis identified baseline hearing level and duration of follow-up as primary predictors of hearing outcome.
• A predictive formula was established: Predicted Hearing Level (dBHL) = 3.78 + 0.96 × (Baseline Hearing Level [dBHL]) + 0.55 × (Duration of Follow-Up [y]).

Conclusions:

• Baseline hearing level and follow-up duration are crucial prognostic factors for GJB2-related SNHI.
• The developed predictive model offers valuable insights for clinical management.
• Findings support informed follow-up protocols and treatment strategies for patients with GJB2 mutations.